CASC1 T530A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

CASC1 T530A

(CASC1 Thr530Ala)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr12:25267613: 3.2% (349/10758) in EVS
  • C @ chr12:25158879: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (349/10758)

Publications
 

Genomes
 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr12:25158880

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr12:25158880

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr12:25158880

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr12:25158880

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr12:25158880

 

Other external references
 

    dbSNP
  • rs34164267
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)
  • omega data
    ... A2M ENSG00000175899 ENST00000318602 4.6672 p>0.05 2.247 rs226405 12 9139500 ... A2M ENSG00000175899 ENST00000318602 0.0000 p>0.05 0.128 rs34470791 17 ...
    bioinfo.cipf.es/francisco/project/replicabilty/...

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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